Add to ORKGTypical findings in this rare genodermatosis Lipoid proteinosis (LiP) results from a multisystem intracellular deposition of noncollagenous proteins and glycoproteins. This deposition appears to be related to the synthesis and metabolism of collagen and is a result of an autosomal recessive mutation with loss-of-function and reduced or absent expression of the extracellular matrix protein 1 gene (ECM1) on chromosome 1q21.1 Striking mucocutaneous and imaging findings might support diagnosis (figure) in a nonspecific scenario of hoarseness, short stature, migraine, memory deficits, seiz-ures, and psychiatric manifestations.2 LiP typically fol-lows a benign, slowly progressive course with a normal lifespan. No effective treatment is currently ...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of h...
BackgroundzzLipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse...
[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoars...
Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extr...
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to depo...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal re...
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach–Wiethe disease (OMIM 24...
Lipoid proteinosis (LP) is a rare, inherited condition that progresses gradually with multisystemic ...
AbstractLipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisy...
Lipoid proteinosis (hyalinosis cutis et mucosae) is a rare, autosomal recessive disease. The main cl...
SUMMARY Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated...
Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical charact...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of h...
BackgroundzzLipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse...
[Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoars...
Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extr...
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to depo...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
BACKGROUND: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal re...
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach–Wiethe disease (OMIM 24...
Lipoid proteinosis (LP) is a rare, inherited condition that progresses gradually with multisystemic ...
AbstractLipoid proteinosis is a rare, autosomal-recessive, genetic disorder characterized by multisy...
Lipoid proteinosis (hyalinosis cutis et mucosae) is a rare, autosomal recessive disease. The main cl...
SUMMARY Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated...
Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical charact...
Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other...
Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in ex...
Lipoid proteinosis is a rare autosomal recessive genodermatosis characterized by the deposition of h...